Details of Disease

General Information of Disease (ID: DISJ3BLB)

Disease Name Myopathy with abnormal lipid metabolism
Synonyms
LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency; lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency; lipid storage myopathy; LSMFLAD; myopathy with abnormal lipid metabolism
Disease Hierarchy
DISU0K94: Hereditary skeletal muscle disorder
DISOWG27: Myopathy
DISJ3BLB: Myopathy with abnormal lipid metabolism
Disease Identifiers
MONDO ID
MONDO_0009703
UMLS CUI
C4310822
OMIM ID
255100
MedGen ID
934789

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FLAD1 OTY8R02L Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.